Key Highlights

Typically results from a deletion in chromosome 22, which disrupts the development of the pharyngeal arches and pouches, and may also cause neurologic, immunologic, endocrinologic, or cognitive deficits.

Classic presentation is a triad of cardiac anomalies, hypoplastic thymus, and hypocalcemia, but clinical manifestations are highly variable, ranging from mild learning disabilities to the complete spectrum of congenital malformations. This phenotypic variability occurs despite a highly consistent genetic lesion.

Presenting signs and symptoms depend on age at diagnosis and the organ system affected. Knowledge of the particular characteristics for a given age helps guide follow-up and management.

Treatment modalities depend on clinical manifestations present in the individual patient. Management is symptomatic and generally follows typical practice for patients without the syndrome, for any given feature.